Roger D Cox
Affiliation: National Institute for Medical Research
Cox R, Church C. Mouse models and the interpretation of human GWAS in type 2 diabetes and obesity. Dis Model Mech. 2011;4:155-64 pubmed publisher
..In this Commentary, we discuss the progress of GWAS in identifying common disease loci for metabolic disease, and the use of the mouse as a model to confirm candidate genes and provide mechanistic insights. ..
Agnew T, Goldsworthy M, Aguilar C, Morgan A, Simon M, Hilton H, et al
. A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways. Cell Rep. 2018;25:3315-3328.e6 pubmed publisher
..These findings demonstrate the potential pleiotropy associated with Wars2 mutations in patients. ..
Xi L, de Falco P, Barbieri E, Karunaratne A, Bentley L, Esapa C, et al
. Bone matrix development in steroid-induced osteoporosis is associated with a consistently reduced fibrillar stiffness linked to altered bone mineral quality. Acta Biomater. 2018;76:295-307 pubmed publisher
..These results will help in the design of new composite musculoskeletal implants for bone repair. ..
Karunaratne A, Xi L, Bentley L, Sykes D, Boyde A, Esapa C, et al
. Multiscale alterations in bone matrix quality increased fragility in steroid induced osteoporosis. Bone. 2016;84:15-24 pubmed publisher
..These findings provide a clear quantitative demonstration of how bone quality changes increase macroscopic fragility in secondary osteoporosis. ..
Cox R, Hugill A, Shedlovsky A, Noveroske J, Best S, Justice M, et al
. Contrasting effects of ENU induced embryonic lethal mutations of the quaking gene. Genomics. 1999;57:333-41 pubmed
..This mutational analysis demonstrates the power of series of alleles to examine the function of complex loci and suggests that additional mutant alleles of quaking could reveal additional functions of this complex gene...
Hugill A, Stewart M, Yon M, Probert F, Cox I, Hough T, et al
. Loss of arylformamidase with reduced thymidine kinase expression leads to impaired glucose tolerance. Biol Open. 2015;4:1367-75 pubmed publisher
..In summary, our findings support a link between abnormal tryptophan metabolism and diabetes and highlight beta cell function for further mechanistic analysis. ..
Goldsworthy M, Bai Y, Li C, Ge H, Lamas E, Hilton H, et al
. Haploinsufficiency of the Insulin Receptor in the Presence of a Splice-Site Mutation in Ppp2r2a Results in a Novel Digenic Mouse Model of Type 2 Diabetes. Diabetes. 2016;65:1434-46 pubmed publisher
Moir L, Bochukova E, Dumbell R, Banks G, Bains R, Nolan P, et al
. Disruption of the homeodomain transcription factor orthopedia homeobox (Otp) is associated with obesity and anxiety. Mol Metab. 2017;6:1419-1428 pubmed publisher
..Further studies will be needed to investigate the contribution of rare variants in OTP to human energy homeostasis. ..
Sachse G, Church C, Stewart M, Cater H, Teboul L, Cox R, et al
. FTO demethylase activity is essential for normal bone growth and bone mineralization in mice. Biochim Biophys Acta. 2018;1864:843-850 pubmed publisher